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Chernomoretz, A.

Publications and source records attributed to Chernomoretz, A..

2 recordsLinked to original sources

ASpli2: Integrative analysis of splicing landscapesthrough RNA-Seq assays

Genome-wide analysis of alternative splicing has been a very active field of research since the early days of NGS (Next generation sequencing) technologies. Since then, ever-growing data availability and the development of increasingly sophisticated analysis methods have uncovered the complexity of the general splicing repertoire. However, independently of the considered quantification methodology, very often changes in variant concentration profiles can be hard to disentangle. In order to tackle this problem we present ASpli2, a computational suite implemented in R, that allows the identification of changes in both, annotated and novel alternative splicing events, and can deal with complex experimental designs. Our analysis workflow relies on the analysis of differential usage of subgenic features in combination with a junction-based description of local splicing changes. Analyzing simulated and real data we found that the consolidation of these signals resulted in a robust proxy of the occurrence of splicing alterations. While junction-based signals allowed us to uncover annotated as well and non-annotated events, bin-associated signals notably increased recall capabilities at a very competitive performance in terms of precision.

bioinformatics

GENis, an open-source multi-tier forensic DNA information system

GENis is an open source multi-tier information system developed to run a forensic DNA database at local, regional and national levels.1 It was conceived as a highly customizable system, enforcing several security policies including: data encryption, double factor identification, structure of users roles and permissions, system-wide secure log auditing, non-repudiation protocols and a blockchain-based option to reinforce genetic profiles integrity. GENis is able to perform genetic profile queries of autosomal STRs and its design follows ENFSI2 and ISFG3 standards and recommendations. In this work, we present a summary of GENis architecture, the implemented matching rule definitions, and the Bayesian framework used to provide statistical significance of cold hits, that includes a new strategy to identify common contributors in mixture pairs.

bioinformatics